A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14259146



Internal ID22132710
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:1334828..1392765hg38UCSC Ensembl
Outerchr16:1384829..1442766hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg3857938
hg1957938
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3212729
Supporting Variants
SamplesHG00513
Known GenesBAIAP3, GNPTG, TSR3, UNKL
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14259146
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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